A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
Plos Genetics
Singh, Nanda A NA; Pappas, Chris C; Dahle, E Jill EJ; Claes, Lieve R F LR; Pruess, Timothy H TH; De Jonghe, Peter P; Thompson, Joel J; Dixon, Missy M; Gurnett, Christina C; Peiffer, Andy A; White, H Steve HS; Filloux, Francis F; Leppert, Mark F MF
Publication Date: 2009-09
Variant appearance in text: SCN1A: 2675delA; N892fsX2